Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

doi:10.1016/j.ajhg.2020.03.009

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Article

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

American journal of human genetics - 7 May 2020

Muir Alison M, Cohen Jennifer L, Sheppard Sarah E, Guttipatti Pavithran, Lo Tsz Y, Weed Natalie, Doherty Dan, DeMarzo Danielle, Fagerberg Christina R, Kjærsgaard Lars, Larsen Martin J, Rump Patrick, Löhner Katharina, Hirsch Yoel, Zeevi David A, Zackai Elaine H, Bhoj Elizabeth, Song Yuanquan, Mefford Heather C

Abstract excerpt

Nucleoporins (NUPs) are an essential component of the nuclear-pore complex, which regulates nucleocytoplasmic transport of macromolecules. Pathogenic variants in NUP genes have been linked to several inherited human diseases, including a number with progressive neurological degeneration. We present six affected individuals with bi-allelic truncating variants in NUP188 and strikingly similar phenotypes and...

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Identifiers

PMID: 32275884
DOI: 10.1016/j.ajhg.2020.03.009
PMCID: PMC7212259

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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